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A comprehensive scanning method for rapid detection of β‐globin gene mutations and polymorphisms
Author(s) -
Ghanem Nada,
Girodon Emmanuelle,
Vidaud Michel,
Martin Josiane,
Fanen Pascale,
Plassa François,
Goossens Michel
Publication year - 1992
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380010310
Subject(s) - biology , genetics , gene , globin , microbiology and biotechnology , computational biology
We describe a scanning procedure for the detection of β‐globin gene mutations and the prenatal diagnosis of β‐thalassemias. The method is based on the combined use of PCR and denaturing gradient gel electrophoresis (DGGE) of six amplified fragments encompassing the whole β‐globin coding region and splice junctions, as well as the promoter and 3′ untranslated regions. The whole β‐globin gene can be rapidly scanned for the presence of deleterious mutations. The proposed diagnostic strategy provides a major improvement over current approaches to β‐globin gene analysis in both research and clinical laboratories, especially those which analyse DNA samples from individuals belonging to various ethnic or population groups. The use of this procedure has enabled us to detect six novel sequence changes in the β‐globin gene, including two deleterious mutations and four polymorphisms. © 1992 Wiley‐Liss, Inc.